Canonical Allele Identifier: CA5012177

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 246437
• ClinVar RCV Id: RCV000236774 ; RCV000561597 ; RCV001049886
• dbSNP Id: rs750655995
• ExAC: 9:21971014 A / T
• gnomAD v2: 9-21971014-A-T
• gnomAD v3: 9-21971015-A-T
• gnomAD v4: 9-21971015-A-T
• COSMIC: COSM12496
• MyVariant Identifiers: chr9:g.21971014A>T (hg19) ; chr9:g.21971015A>T (hg38)
• PubMed: PMID:24436120

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971015A>T , CM000671.2:g.21971015A>T	GRCh38
NC_000009.11:g.21971014A>T , CM000671.1:g.21971014A>T	GRCh37
NC_000009.10:g.21961014A>T	NCBI36
NG_007485.1:g.28477T>A , LRG_11:g.28477T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.344T>A MANE Select	ENSP00000307101.5:p.Val115Glu
ENST00000404796.3:c.348-58418A>T	ENSP00000385916.2:n.348-58418A>T
ENST00000579755.2:c.387T>A MANE Plus Clinical	ENSP00000462950.1:p.Arg129=
ENST00000304494.9:c.344T>A	ENSP00000307101.5:p.Val115Glu
ENST00000361570.4:c.386T>A	ENSP00000355153.4:p.Val129Glu
ENST00000380150.2:n.318T>A
ENST00000380151.3:c.618T>A	ENSP00000369496.3:n.618T>A
ENST00000404796.2:c.348-58418A>T	ENSP00000385916.2:n.348-58418A>T
ENST00000479692.2:c.191T>A	ENSP00000466887.1:p.Val64Glu
ENST00000494262.5:c.191T>A	ENSP00000464952.1:p.Val64Glu
ENST00000497750.1:c.191T>A	ENSP00000468510.1:p.Val64Glu
ENST00000498124.1:c.344T>A	ENSP00000418915.1:p.Val115Glu
ENST00000498628.6:c.191T>A	ENSP00000467857.1:p.Val64Glu
ENST00000530628.2:c.387T>A	ENSP00000432664.2:p.Arg129=
ENST00000578845.2:c.191T>A	ENSP00000467390.1:p.Val64Glu
ENST00000579122.1:c.344T>A	ENSP00000464202.1:p.Val115Glu
ENST00000579755.1:c.387T>A	ENSP00000462950.1:p.Arg129=
NM_000077.4:c.344T>A , LRG_11t1:c.344T>A	NP_000068.1:p.Val115Glu
NM_001195132.1:c.344T>A	NP_001182061.1:p.Val115Glu
NM_058195.3:c.387T>A , LRG_11t2:c.387T>A	NP_478102.2:p.Arg129=
NM_058197.4:c.618T>A	NP_478104.2:n.618T>A
XM_005251343.1:c.191T>A	XP_005251400.1:p.Val64Glu
XM_011517675.1:c.344T>A	XP_011515977.1:p.Val115Glu
XM_011517676.1:c.344T>A	XP_011515978.1:p.Val115Glu
XM_011517679.1:c.191T>A	XP_011515981.1:p.Val64Glu
XR_929159.1:n.745T>A
XR_929161.1:n.534T>A
XR_929162.1:n.534T>A
XR_929163.1:n.483T>A
XR_929164.1:n.266T>A
NM_001363763.1:c.191T>A	NP_001350692.1:p.Val64Glu
XM_011517675.2:c.344T>A	XP_011515977.1:p.Val115Glu
XM_011517676.2:c.344T>A	XP_011515978.1:p.Val115Glu
XR_929159.2:n.674T>A
NM_001363763.2:c.191T>A	NP_001350692.1:p.Val64Glu
NM_000077.5:c.344T>A MANE Select	NP_000068.1:p.Val115Glu
NM_001195132.2:c.344T>A	NP_001182061.1:p.Val115Glu
NM_058195.4:c.387T>A MANE Plus Clinical	NP_478102.2:p.Arg129=
NM_058197.5:c.*267T>A	NP_478104.2:n.*267T>A